U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Kniest dysplasia

MedGen UID:
75559
Concept ID:
C0265279
Disease or Syndrome
Synonyms: Kniest Chondrodystrophy; Kniest Syndrome; Swiss Cheese Cartilage Dysplasia
SNOMED CT: Kniest dysplasia (53974002); Kniest syndrome (53974002); Kniest chondrodystrophy (53974002); Swiss cheese cartilage dysplasia (53974002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0007987
OMIM®: 156550
Orphanet: ORPHA485

Definition

Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by Wilkin et al., 1999). [from OMIM]

Additional description

From MedlinePlus Genetics
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.

People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot).

Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.  https://medlineplus.gov/genetics/condition/kniest-dysplasia

Clinical features

From HPO
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Dumbbell-shaped femur
MedGen UID:
870603
Concept ID:
C4025052
Anatomical Abnormality
The femur is shortened and displays flaring (widening) of the metaphyses.
Coxa vara
MedGen UID:
1790477
Concept ID:
C5551440
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Lumbar kyphoscoliosis
MedGen UID:
371940
Concept ID:
C1834953
Finding
Coronal cleft vertebrae
MedGen UID:
320483
Concept ID:
C1834954
Finding
Frontal schisis (cleft or cleavage) of vertebral bodies.
Flattened, squared-off epiphyses of tubular bones
MedGen UID:
331868
Concept ID:
C1834961
Finding
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Disproportionate short-trunk short stature
MedGen UID:
337580
Concept ID:
C1846435
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Enlarged joints
MedGen UID:
347068
Concept ID:
C1859111
Finding
Increase in size of one or more joints.
Delayed epiphyseal ossification
MedGen UID:
351324
Concept ID:
C1865200
Finding
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Dumbbell-shaped long bone
MedGen UID:
412739
Concept ID:
C2749582
Finding
An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
Abnormal cartilage collagen
MedGen UID:
893096
Concept ID:
C4021847
Anatomical Abnormality
Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.
Splayed epiphyses
MedGen UID:
867523
Concept ID:
C4021906
Anatomical Abnormality
Flaring (widening) of the epiphysis.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Tracheomalacia
MedGen UID:
215296
Concept ID:
C0948187
Disease or Syndrome
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Recent clinical studies

Etiology

Zhu X, Xing X, Li D, Yu B
Medicine (Baltimore) 2023 Nov 24;102(47):e36090. doi: 10.1097/MD.0000000000036090. PMID: 38013291Free PMC Article
Handa A, Grigelioniene G, Nishimura G
Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13 doi: 10.1148/rg.2021200075. PMID: 33186059
Xu Y, Li L, Wang C, Yue H, Zhang H, Gu J, Hu W, Liu L, Zhang Z
Int J Biol Sci 2020;16(5):859-868. Epub 2020 Jan 16 doi: 10.7150/ijbs.38811. PMID: 32071555Free PMC Article
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP
Eye (Lond) 2015 Apr;29(4):475-82. Epub 2015 Jan 16 doi: 10.1038/eye.2014.334. PMID: 25592122Free PMC Article
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP
Spine (Phila Pa 1976) 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. PMID: 22045003

Diagnosis

Handa A, Grigelioniene G, Nishimura G
Radiographics 2021 Jan-Feb;41(1):192-209. Epub 2020 Nov 13 doi: 10.1148/rg.2021200075. PMID: 33186059
Xu Y, Li L, Wang C, Yue H, Zhang H, Gu J, Hu W, Liu L, Zhang Z
Int J Biol Sci 2020;16(5):859-868. Epub 2020 Jan 16 doi: 10.7150/ijbs.38811. PMID: 32071555Free PMC Article
Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM
Pediatr Radiol 2020 Feb;50(2):224-233. Epub 2019 Nov 27 doi: 10.1007/s00247-019-04537-8. PMID: 31776601
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP
Eye (Lond) 2015 Apr;29(4):475-82. Epub 2015 Jan 16 doi: 10.1038/eye.2014.334. PMID: 25592122Free PMC Article
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP
Spine (Phila Pa 1976) 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. PMID: 22045003

Therapy

Zhu X, Xing X, Li D, Yu B
Medicine (Baltimore) 2023 Nov 24;102(47):e36090. doi: 10.1097/MD.0000000000036090. PMID: 38013291Free PMC Article
Dwek JR
Pediatr Radiol 2005 Feb;35(2):191-3. Epub 2004 Aug 26 doi: 10.1007/s00247-004-1300-y. PMID: 15338083
Yokoyama T, Nakatani S, Murakami A
Am J Ophthalmol 2003 Dec;136(6):1186-8. doi: 10.1016/s0002-9394(03)00713-x. PMID: 14644246

Prognosis

Markova T, Kenis V, Melchenko E, Osipova D, Nagornova T, Orlova A, Zakharova E, Dadali E, Kutsev S
Genes (Basel) 2022 Jan 13;13(1) doi: 10.3390/genes13010137. PMID: 35052477Free PMC Article
Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM
Pediatr Radiol 2020 Feb;50(2):224-233. Epub 2019 Nov 27 doi: 10.1007/s00247-019-04537-8. PMID: 31776601
Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P
Am J Med Genet A 2015 Dec;167A(12):3204-8. Epub 2015 Sep 8 doi: 10.1002/ajmg.a.37361. PMID: 26345137
Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A
Eur J Pediatr 1997 Mar;156(3):214-23. doi: 10.1007/s004310050587. PMID: 9083764
Sconyers SM, Rimoin DL, Lachman RS, Adomian GE, Crandall BF
J Pediatr 1983 Dec;103(6):898-904. doi: 10.1016/s0022-3476(83)80709-4. PMID: 6358440

Clinical prediction guides

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR
Am J Med Genet A 2015 Mar;167A(3):461-75. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36922. PMID: 25604898
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP
Eye (Lond) 2015 Apr;29(4):475-82. Epub 2015 Jan 16 doi: 10.1038/eye.2014.334. PMID: 25592122Free PMC Article
Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A
Eur J Pediatr 1997 Mar;156(3):214-23. doi: 10.1007/s004310050587. PMID: 9083764
Burton BK, Sumner T, Langer LO Jr, Rimoin DL, Adomian GE, Lachman RS, Nicastro JF, Kelly DL, Weaver RG
J Pediatr 1986 Oct;109(4):642-8. doi: 10.1016/s0022-3476(86)80228-1. PMID: 3761078
Sconyers SM, Rimoin DL, Lachman RS, Adomian GE, Crandall BF
J Pediatr 1983 Dec;103(6):898-904. doi: 10.1016/s0022-3476(83)80709-4. PMID: 6358440

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...